Posts Tagged ‘abdominal wall defects’

Cases of gastroschisis continue to rise

Friday, January 22nd, 2016

research_birthdefectsresearch_rdax_50New research shows that the number of cases of gastroschisis, a birth defect of the abdominal wall, has more than doubled over the past 18 years.

Gastroschisis is a birth defect where the baby’s intestines, and sometimes other organs, are outside of the baby’s abdomen. After birth, surgery is required to place the baby’s organs back inside the abdomen. In 2013, a study showed that the number of cases of gastroschisis had nearly doubled between 1995-2005. The highest rates were observed in non-Hispanic white teen mothers. Women younger than age 20 were over seven times more likely to have a baby with gastroschisis compared with women aged 25-29.

Researchers from the CDC wanted to determine if the rate of gastroschisis continued to increase after 2005. Looking at data from 14 states between 2006-2012, they found that the number of babies born with gastroschisis has continued to increase. This growth was not limited to young mothers. There were more cases of gastroschisis across all categories of maternal age and race/ethnicity.

While the highest number of gastroschisis cases still occurs in young (<20 years old) non-Hispanic white mothers, the most recent data shows a significant increase among young black mothers as well.

These increases in gastroschisis are seen in the US and internationally. The underlying cause has not been determined. “When you see something rising as fast as this is in all population groups, and in all ages, it tells you something serious is going on. We need to try and figure out what it is so we can prevent the rise,” says Edward R.B. McCabe, MD, PhD, Senior Vice President and Chief Medical Officer at the March of Dimes.

Most babies with gastroschisis recover and develop normally. But, some babies go on to have feeding problems in early childhood. Learn more about the different types of abdominal defects and surgeries here.

The March of Dimes continues to fund research to better understand how conditions such as gastroschisis develops and how we can prevent them.

Not all NICU babies are preemies

Thursday, September 9th, 2010

isoletteThe wonderful DiscoveryHealth NICU series (Thursdays at 10 PM ET/PT) has brought to light the intensity and reality of the struggles premature babies and their families face.  But babies born full term can be in the NICU, too, especially if they are sick or have a birth defect and need specialized treatment.

Some babies are born with an abdominal wall defect such as gastroschisis or omphalocele. These often require surgery or staged repair over time.  Some babies have heart defects that also require monitoring or surgery.  Other babies may qualify as full term (over 37 completed weeks) but have failed to thrive and have a low birthweight.   Other conditions that might require a stay in the NICU  include: anemia (low number of red blood cells in the blood), apnea (breathing irregularity), bradycardia (abnormal slowing of the heart rate), bronchopulmonary dysplasia (a form of chronic lung disease), hydrocephalus (water on the brain), sepsis (infection that spreads throughout the body).

All of us with preemies are acutely aware of these intensive care services, but we need to realize that the wonderful staff of the NICU need to be prepared for any baby, any size, any gestational age, any complication.  Thank goodness they are there for all of us.

Abdominal wall defects

Thursday, September 2nd, 2010

Abdominal wall defects are birth defects in which there is an opening in the belly of the fetus.  When this happens, some of the contents of the abdomen protrude through that opening.

Omphalocele is a type of umbilical hernia where some of the internal organs push through the abdominal wall.  They are typically covered by a sac.  In some cases, the omphalocele can be small with only part of the intestine protruding.  In other case, most of the abdominal organs, including the liver, intestine, and spleen, are on the outside.

Omphalocele is rare.  If it occurs by itself then the chance of it happening in a future pregnancy is 1%.  If the omphalocele is associated with other issues, then the recurrence risk depends on the underlying problem.

Omphalocele is usually diagnosed by ultrasound.  Treatment depends on the size of the opening and the organs involved.  A small omphalocele may be corrected with one surgery shortly after birth, while a larger omphalocele requires closure in stages and therefore multiple surgeries.  Because the baby’s belly may be smaller than normal, the baby may suffer from breathing problems as the organs are put back in place.  The future outlook for these babies depends on how large the omphalocele was and what internal organs were involved, if blood flow was restricted to part of the intestine or other organs, and whether or not the baby had other problems.

Gastroschisis is another type of abdominal wall defect, but it differs from omphalocele.  Typically during fetal development, as the baby grows, the abdominal organs are pulled inside and the muscles and skin close around them.  In babies with gastroschisis, this process does not occur as it should.  The result is an opening in the belly, typically to the right of the umbilical cord and less than 2 inches in size, where the intestines, liver, and stomach protrude.  In the case of gastroschisis, there is no sac covering the organs, so throughout gestation they are exposed to amniotic fluid.  This exposure causes the organs to swell and become irritated.

The Centers for Disease Control and Prevention (CDC) estimates that about 1,871 babies are born each year in the United States with gastroschisis.  It is usually isolated and not associated with other birth defects.  After a diagnosis of gastroschisis, special delivery arrangements are often made.  Delivery needs to take place in a hospital with a NICU.  Sometimes the birth is scheuled as early as 36 weeks, as long as the baby’s lungs are mature.  This is to try to shorten the amount of time that the intestines are exposed to amniotic fluid, which can cause so much damage.  Surgery usually takes place within 24 hours.  Again, depending on the size, a staged repair may be required.  If that is the case, a silo is placed around the part of the intestines that is still exposed and every day it is tightened to push more back into the abdomen.

The prognosis for babies born with gastroschisis is usually good.  However, if the intestine was damaged by the amniotic fluid, or twisted in some way, more complications may result and the baby may require prolonged intravenous nutrition and an extended stay in the NICU.

Updated 2/10/2016

Do those blood tests confuse you?

Monday, August 9th, 2010

For those of you who are pregnant, sometime between 15-20 weeks of pregnancy, you will be offered maternal serum screening.  What is this?  And more importantly, what do the results mean?  I think maternal blood screening is one of the most misunderstood tests in pregnancy.  And for some women it can be a very nerve-wracking experience.

The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women regardless of age be offered a screening test for Down syndrome and certain other birth defects.  This is a blood test that looks at the levels of either 3 or 4 (depending on the test) chemicals that are present in a pregnant woman’s blood.  The chemicals are AFP (alpha fetoprotein), hCG (human chorionic gonadotropin—the same chemical that a home pregnancy test measures), estriol, and recently most labs have added a fourth substance, inhibin A.  These chemicals are present in every pregnant woman’s blood.  Some of them are produced by the fetus while others are hormones produced by the placenta.

Maternal serum tests such as the triple screen or the quad screen as they are commonly called, look at the levels of these 3 or 4 chemicals in the mother’s blood and the woman’s age, weight, race, number of fetuses (e.g. twins) and whether she has diabetes that requires insulin treatment.  Then given all of those factors and the levels of the 3 or 4 chemicals the laboratory can determine the chance that a woman has a baby with Down syndrome, a neural tube defect (spina bifida), trisomy 18, or abdominal wall defects.

There are two different ways that the results may be reported.  A woman may receive her test result as a ratio. For example, her baby has a 1 in 500 chance for Down syndrome. Or, in some cases, a woman’s test results are reported as normal (screen negative) or abnormal (screen positive), depending on whether her results fall below or above a cut-off point (usually about 1 in 270).

The test is NOT a diagnosis of any of these conditions though.  This is where there is a lot of confusion.  By definition, screening tests do not diagnose a condition.  They only determine whether there is an increased risk for the condition.  The good news is that of all of the women who screen positive, only a small percentage will actually have a baby with one of these disorders.  Many times women have an abnormal result simply because their fetus is a few weeks older or younger than previously thought.

For women with abnormal results, the next step is usually an ultrasound. This test can check the gestational age of the fetus and show if a woman is carrying multiples. If either of these factors accounts for the abnormal test result, no further testing is needed. If ultrasound does not explain the abnormal test result, amniocentesis will be offered.  An amniocentesis is an invasive test where the doctor uses a needle to remove some of the amniotic fluid around the baby.  Although amnio does pose a very slight risk of miscarriage (1/4 of one percent or 1/500), it is extremely accurate and usually can give a pregnant woman a definitive answer.  Should a problem exist, arrangements can be made in advance for special care of the newborn at delivery.